Details for Gene LEPR

GENE NAME LEPR
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000116678
UNIPROT ACCESSION NUMBER P48357
GO MOLECULAR FUNCTION ['peptide hormone binding', 'cytokine binding', 'leptin receptor activity', 'transmembrane signaling receptor activity', 'protein binding', 'cytokine receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04060; hsa04080; hsa04152; hsa04630; hsa04920; hsa04932
4 combinations linked to LEPR OLI357; OLI1427; OLI1377; OLI1382
4 variants linked to LEPR LEPR:p.1128del; LEPR:c.390G>T, p.Gln130His; LEPR:c.2246T>C, p.Leu749Ser; LEPR:c.371A>G, p.Asp124Gly
3 diseases linked to LEPR Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Kallmann syndrome

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